Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs9378251
rs9378251
CYP21A2
0.776 0.320 6 32038514 missense variant C/T snv 9.2E-05 5.4E-04
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.730 1.000 9 1991 2013
dbSNP: rs6471
rs6471
CYP21A2
0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.720 1.000 11 1990 2013
dbSNP: rs6475
rs6475
CYP21A2
0.807 0.320 6 32039426 missense variant T/A snv 4.8E-04 1.2E-03
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.720 1.000 9 1988 2017
dbSNP: rs72552758
rs72552758
CYP21A2 ; TNXB
0.882 0.200 6 32040919 missense variant G/A snv 1.5E-05 3.5E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.710 1.000 21 1985 2016
dbSNP: rs547552654
rs547552654
CYP21A2
0.882 0.200 6 32039165 missense variant A/C snv
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.710 1.000 20 1985 2016
dbSNP: rs550051210
rs550051210
CYP21A2
0.882 0.200 6 32039118 missense variant C/A;T snv 7.0E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.710 1.000 20 1985 2016
dbSNP: rs104893983
rs104893983
CYP21A2 ; NEU1
0.882 0.160 6 31860510 missense variant C/T snv 8.0E-06
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.710 1.000 10 1996 2014
dbSNP: rs398123392
rs398123392
CYP21A2 ; NEU1
0.882 0.160 6 31861259 missense variant T/C;G snv 1.1E-04
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.710 1.000 3 2000 2018
dbSNP: rs2736428
rs2736428
CYP21A2 ; SLC44A4
0.925 0.160 6 31876147 intron variant C/T snv 0.33 0.26
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.710 1.000 2 2015 2017
dbSNP: rs641153
rs641153
CFB ; CYP21A2
0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		0.710 1.000 2 2012 2019
dbSNP: rs9332739
rs9332739
C2 ; CYP21A2 ; C2-AS1
0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		0.710 1.000 2 2012 2012
dbSNP: rs200005406
rs200005406
CYP21A2 ; TNXB
0.851 0.200 6 32041097 missense variant G/A;C snv 8.8E-06; 3.3E-04
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.710 1.000 1 1993 1993
dbSNP: rs267606757
rs267606757
CYP21A2
0.882 0.200 6 32039162 missense variant A/C snv
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.710 1.000 1 2008 2008
dbSNP: rs397509367
rs397509367
CYP21A2 ; TNXB
0.882 0.200 6 32041097 frameshift variant GG/C delins
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.710 1.000 1 1993 1993
dbSNP: rs644045
rs644045
C2 ; CYP21A2
0.851 0.240 6 31916180 intron variant A/G snv 0.72
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.710 1.000 1 2017 2017
dbSNP: rs6445
rs6445
CYP21A2 ; TNXB
0.827 0.240 6 32041006 missense variant C/T snv 4.6E-03 5.2E-03
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.710 1.000 1 1997 1997
dbSNP: rs9378252
rs9378252
CYP21A2
0.882 0.200 6 32038610 missense variant A/G;T snv 4.4E-02
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.710 1.000 1 2008 2008
dbSNP: rs1296268275
rs1296268275
CYP21A2
1.000 0.200 6 32039142 missense variant C/A;T snv
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016
dbSNP: rs1370167869
rs1370167869
CYP21A2 ; TNXB
1.000 0.200 6 32040925 missense variant C/T snv 1.5E-05 4.9E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016
dbSNP: rs143240527
rs143240527
CYP21A2
1.000 0.200 6 32039593 missense variant A/G;T snv 4.9E-04
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016
dbSNP: rs151344504
rs151344504
CYP21A2 ; TNXB
0.925 0.240 6 32040926 missense variant G/A snv 7.0E-06
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016
dbSNP: rs574370139
rs574370139
CYP21A2
1.000 0.200 6 32040536 missense variant G/A snv 1.7E-04 4.9E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016
dbSNP: rs63749090
rs63749090
CYP21A2
0.851 0.280 6 32038468 missense variant G/A snv 2.1E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016
dbSNP: rs72552750
rs72552750
CYP21A2
1.000 0.200 6 32039175 missense variant G/A snv 2.6E-05 1.4E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016
dbSNP: rs72552751
rs72552751
CYP21A2
0.925 0.200 6 32039444 missense variant G/C snv
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016